Canonical Allele Identifier: CA346366236

Gene: SOS1

Linked Data

• gnomAD v4: 2-39023019-C-T
• MyVariant Identifiers: chr2:g.39250160C>T (hg19) ; chr2:g.39023019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023019C>T , CM000664.2:g.39023019C>T	GRCh38
NC_000002.11:g.39250160C>T , CM000664.1:g.39250160C>T	GRCh37
NC_000002.10:g.39103664C>T	NCBI36
NG_007530.1:g.102445G>A , LRG_754:g.102445G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1289G>A
ENST00000685279.1:c.176G>A	ENSP00000509424.1:p.Cys59Tyr
ENST00000688043.1:n.1630G>A
ENST00000689668.1:n.1416G>A
ENST00000690876.1:c.1298G>A	ENSP00000508955.1:p.Cys433Tyr
ENST00000691229.1:c.1298G>A	ENSP00000510437.1:p.Cys433Tyr
ENST00000692089.1:c.1298G>A	ENSP00000508626.1:p.Cys433Tyr
ENST00000692620.1:c.176G>A	ENSP00000509311.1:p.Cys59Tyr
ENST00000402219.8:c.1409G>A MANE Select	ENSP00000384675.2:p.Cys470Tyr
ENST00000395038.6:c.1409G>A	ENSP00000378479.2:p.Cys470Tyr
ENST00000402219.6:c.1409G>A	ENSP00000384675.2:p.Cys470Tyr
ENST00000426016.5:c.1409G>A	ENSP00000387784.1:p.Cys470Tyr
ENST00000472480.1:n.253G>A
NM_005633.3:c.1409G>A , LRG_754t1:c.1409G>A	NP_005624.2:p.Cys470Tyr
XM_005264515.3:c.1409G>A	XP_005264572.1:p.Cys470Tyr
XM_011533060.1:c.1502G>A	XP_011531362.1:p.Cys501Tyr
XM_011533061.1:c.1502G>A	XP_011531363.1:p.Cys501Tyr
XM_011533062.1:c.1388G>A	XP_011531364.1:p.Cys463Tyr
XM_011533063.1:c.1385G>A	XP_011531365.1:p.Cys462Tyr
XM_011533064.1:c.1238G>A	XP_011531366.1:p.Cys413Tyr
XM_011533065.1:c.1502G>A	XP_011531367.1:p.Cys501Tyr
XM_011533066.1:c.344G>A	XP_011531368.1:p.Cys115Tyr
XM_005264515.4:c.1409G>A	XP_005264572.1:p.Cys470Tyr
XM_011533062.2:c.1388G>A	XP_011531364.1:p.Cys463Tyr
XM_011533064.2:c.1238G>A	XP_011531366.1:p.Cys413Tyr
NM_001382394.1:c.1388G>A	NP_001369323.1:p.Cys463Tyr
NM_001382395.1:c.1409G>A	NP_001369324.1:p.Cys470Tyr
NM_005633.4:c.1409G>A MANE Select	NP_005624.2:p.Cys470Tyr